Gene Summary

Name:
adipogenin
Synonyms:
SMAF1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
eye hemorrhage Adigtm1.1(KOMP)Vlcg HOM   Early adult 7.28×10-05

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Wholemount images  Section images heterozygote 50% (3 of 6)
Esophagus  Section images heterozygote 16.67% (1 of 6)
Ileum  Section images heterozygote 50% (3 of 6)
Prostate gland  Section images heterozygote 16.67% (1 of 6)
Testis  Wholemount images  Section images heterozygote 50% (3 of 6)
Vas deferens  Section images heterozygote 50% (3 of 6)
Adrenal gland N/A heterozygote 0.0% (0 of 6)
Aorta N/A heterozygote 0.0% (0 of 6)
Blood N/A heterozygote 0.0% (0 of 6)
Bone marrow N/A heterozygote 0.0% (0 of 6)
Brain N/A heterozygote 0.0% (0 of 6)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 6)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (2 of 6)
Cerebellum N/A heterozygote 0.0% (0 of 6)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (2 of 6)
Diaphragm N/A heterozygote 0.0% (0 of 6)
Duodenum N/A heterozygote 16.67% (1 of 6)
Eye N/A heterozygote 0.0% (0 of 6)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 6)
Harderian gland N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 33.33% (2 of 6)
Kidney N/A heterozygote 16.67% (1 of 6)
Large intestine N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 6)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 6)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 6)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 6)
Midbrain N/A heterozygote 0.0% (0 of 6)
Olfactory lobe N/A heterozygote 0.0% (0 of 6)
Ovary N/A heterozygote 0.0% (0 of 6)
Oviduct N/A heterozygote 0.0% (0 of 6)
Pancreas N/A heterozygote 0.0% (0 of 6)
Parathyroid gland N/A heterozygote 0.0% (0 of 6)
Parotid gland N/A heterozygote 0.0% (0 of 6)
Penis N/A heterozygote 0.0% (0 of 6)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 6)
Quadriceps N/A heterozygote 0.0% (0 of 6)
Sciatic nerve N/A heterozygote 0.0% (0 of 6)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 6)
Small intestine N/A heterozygote 50% (3 of 6)
Spinal cord N/A heterozygote 0.0% (0 of 6)
Spleen N/A heterozygote 0.0% (0 of 6)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (2 of 6)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 6)
Submandibular gland N/A heterozygote 0.0% (0 of 6)
Thymus N/A heterozygote 0.0% (0 of 6)
Thyroid gland N/A heterozygote 16.67% (1 of 6)
Tongue N/A heterozygote 0.0% (0 of 6)
Trachea N/A heterozygote 0.0% (0 of 6)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 6)
Urinary bladder N/A heterozygote 0.0% (0 of 6)
Uterus N/A heterozygote 0.0% (0 of 6)
Vagina N/A heterozygote 0.0% (0 of 6)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 6)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Adult LacZ

LacZ Images Section

27 Images

X-ray

XRay Images Skull Lateral Orientation

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

X-ray

XRay Images Hind Leg and Hip

20 Images

X-ray

XRay Images Forepaw

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Adig mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adig by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... ORPHA:71529
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat, Insulin-resist... ORPHA:79085
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin... OMIM:615238
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Decre... ORPHA:435651
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization OMIM:180080
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... ORPHA:280365
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Lipo... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Generalized lipodystrophy, Acute pancreatitis, Insulin... ORPHA:79086
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Hypogonadism OMIM:614962
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ... OMIM:608612
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia ORPHA:2849
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic cardiomyopathy, Muscl... ORPHA:464321
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Subconjunctival hemo... ORPHA:464329
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... ORPHA:340
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Eales Disease
Vitreous hemorrhage, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic s... ORPHA:40923
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Lujo Hemorrhagic Fever
Excessive bleeding after a venipuncture, Hypotension, Myocarditis, Shock, Purpura, Ecchymosis, Su... ORPHA:319213
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... ORPHA:263455
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Lipodystrop... OMIM:613327
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon OMIM:611773
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Lipoatrophy, Decreased body weigh... ORPHA:79474
Retinoblastoma
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjunctival hemorrhage, Pe... ORPHA:509
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Cirrhosis, Hepat... OMIM:602579
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Gastrointestinal hemorrhage, Tela... OMIM:192315
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... ORPHA:71212
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... ORPHA:508
Rett Syndrome
Failure to thrive, Increased serum leptin, Cholecystitis ORPHA:778
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... ORPHA:758
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Waldenström Macroglobulinemia
Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, Gastrointestinal hemorrhage, Epistaxi... ORPHA:33226
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Familial Drusen
Macular hemorrhage ORPHA:75376
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Micronodular... ORPHA:404454
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Female hypogonadism, Delayed menarche, Pubertal developmental failure i... ORPHA:740
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage OMIM:608710
Rift Valley Fever
Melena, Hematemesis, Abnormal bleeding, Retinal hemorrhage, Gingival bleeding ORPHA:319251
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia OMIM:614653
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonic stenosis, Aortic valve stenosis, Hyphema ORPHA:261552
Incontinentia Pigmenti
Telangiectasia of the skin, Retinal hemorrhage, Cerebral ischemia, Pulmonary arterial hypertensio... ORPHA:464
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Cirr... ORPHA:99226
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Cockayne Syndrome Type 3
Retinal hemorrhage, Increased blood pressure, Cardiomyopathy, Subdural hemorrhage ORPHA:90324
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage ORPHA:91500
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Trichinellosis
Retinal hemorrhage ORPHA:863
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... ORPHA:64
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Cockayne Syndrome
Hypertension, Retinal hemorrhage ORPHA:191
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage OMIM:175780
Generalized Arterial Calcification Of Infancy
Weak pulse, Retinal hemorrhage, Left ventricular systolic dysfunction, Hypertension, Transient is... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Adig

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adig.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Phenotypic characterization of Adig null mice suggests roles for adipogenin in the regulation of fat mass accrual and leptin secretion. Cell reports (March 2021) Adigtm1.1(KOMP)Vlcg PMC7966854
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Adigtm1(KOMP)Vlcg PMC4739719

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MGI Allele Allele Type Produced
Adigtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adigtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Adigtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adigtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells, Tissue

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